Karel Liem, MD, PhD
Associate Professor of Pediatrics (Critical Care Medicine)
Research & Publications
Biography
News
Research Summary
The Liem lab studies mutations that affect the development of the mammalian embryo. The lab uses forward genetics and other approaches in the mouse to identify novel genes and signaling pathways that are required for sculpting the body plan and for proper organ development. The lab is especially interested in mutations that cause developmental defects of the central nervous system and in mutations that affect the development of cilia, microtubule-based organelles on the surface of most cells. Current projects include (1) the role of cilia in molecular signaling in Polycystic Kidney Disease and other “Ciliopathies” (2) the cellular and molecular basis of “Tubulinopathies” including the neurodegenerative disorder H-ABC.
Coauthors
Research Interests
Congenital Abnormalities; Ciliary Motility Disorders; Demyelinating Diseases; Embryonic Structures; Kidney Diseases; Nervous System Malformations; Nervous System Diseases; Neurodegenerative Diseases; Heterotaxy Syndrome
Research Images
Selected Publications
- Interactions between TULP3 tubby domain and ARL13B amphipathic helix promote lipidated protein transport to cilia.Palicharla V, Hwang S, Somatilaka B, Legué E, Shimada I, Familiari N, Tran V, Woodruff J, Liem K, Mukhopadhyay S. Interactions between TULP3 tubby domain and ARL13B amphipathic helix promote lipidated protein transport to cilia. Molecular Biology Of The Cell 2023, 34: ar18. PMID: 36652335, PMCID: PMC10011728, DOI: 10.1091/mbc.e22-10-0473.
- A pathogenic variant of TULP3 causes renal and hepatic fibrocystic diseaseKhamirani H, Palicharla VR, Dastgheib SA, Dianatpour M, Imanieh MH, Tabei SS, Besse W, Mukhopadhyay S, Liem KF. A pathogenic variant of TULP3 causes renal and hepatic fibrocystic disease Frontiers In Genetics 2022, 13: 1021037. PMID: 36276950, PMCID: PMC9585244, DOI: 10.3389/fgene.2022.1021037.
- A dominant tubulin mutation causes cerebellar neurodegeneration in a genetic model of tubulinopathyFertuzinhos S, Legué E, Li D, Liem KF. A dominant tubulin mutation causes cerebellar neurodegeneration in a genetic model of tubulinopathy Science Advances 2022, 8: eabf7262. PMID: 35171680, PMCID: PMC8849301, DOI: 10.1126/sciadv.abf7262.
- Mutations in Ciliary Trafficking Genes affect Sonic Hedgehog-dependent Neural Tube Patterning Differentially along the Anterior–Posterior AxisLegué E, Liem KF. Mutations in Ciliary Trafficking Genes affect Sonic Hedgehog-dependent Neural Tube Patterning Differentially along the Anterior–Posterior Axis Neuroscience 2020, 450: 3-14. PMID: 32682825, PMCID: PMC7688495, DOI: 10.1016/j.neuroscience.2020.07.015.
- The Ciliary Protein Arl13b Functions Outside of the Primary Cilium in Shh-Mediated Axon GuidanceFerent J, Constable S, Gigante ED, Yam PT, Mariani LE, Legué E, Liem KF, Caspary T, Charron F. The Ciliary Protein Arl13b Functions Outside of the Primary Cilium in Shh-Mediated Axon Guidance Cell Reports 2019, 29: 3356-3366.e3. PMID: 31825820, PMCID: PMC6927553, DOI: 10.1016/j.celrep.2019.11.015.
- Cell-Autonomous Hedgehog Signaling Is Not Required for Cyst Formation in Autosomal Dominant Polycystic Kidney DiseaseMa M, Legué E, Tian X, Somlo S, Liem KF. Cell-Autonomous Hedgehog Signaling Is Not Required for Cyst Formation in Autosomal Dominant Polycystic Kidney Disease Journal Of The American Society Of Nephrology 2019, 30: 2103-2111. PMID: 31451534, PMCID: PMC6830786, DOI: 10.1681/asn.2018121274.
- Tulp3 Is a Ciliary Trafficking Gene that Regulates Polycystic Kidney DiseaseLegué E, Liem KF. Tulp3 Is a Ciliary Trafficking Gene that Regulates Polycystic Kidney Disease Current Biology 2019, 29: 803-812.e5. PMID: 30799240, DOI: 10.1016/j.cub.2019.01.054.
- WDR5 Stabilizes Actin Architecture to Promote Multiciliated Cell FormationKulkarni SS, Griffin JN, Date PP, Liem KF, Khokha MK. WDR5 Stabilizes Actin Architecture to Promote Multiciliated Cell Formation Developmental Cell 2018, 46: 595-610.e3. PMID: 30205038, PMCID: PMC6177229, DOI: 10.1016/j.devcel.2018.08.009.
- Cofilin and Vangl2 cooperate in the initiation of planar cell polarity in the mouse embryoMahaffey J, Grego-Bessa J, Liem K, Anderson K. Cofilin and Vangl2 cooperate in the initiation of planar cell polarity in the mouse embryo Journal Of Cell Science 2013, 126: e1-e1. DOI: 10.1242/jcs.129452.
- The Spinocerebellar Ataxia-Associated Gene Tau Tubulin Kinase 2 Controls the Initiation of CiliogenesisGoetz SC, Liem KF, Anderson KV. The Spinocerebellar Ataxia-Associated Gene Tau Tubulin Kinase 2 Controls the Initiation of Ciliogenesis Cell 2012, 151: 847-858. PMID: 23141541, PMCID: PMC3496184, DOI: 10.1016/j.cell.2012.10.010.
- Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signalingLiem KF, He M, Ocbina PJ, Anderson KV. Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling Proceedings Of The National Academy Of Sciences Of The United States Of America 2009, 106: 13377-13382. PMID: 19666503, PMCID: PMC2726420, DOI: 10.1073/pnas.0906944106.